Because I will be looking for a job from a rare but certainly not unique place of being, I decided to reach out to a mentor who lives with the…
AVROBIO has recently received the Orphan Drug designation for AVR-RD-04, a gene therapy for the treatment of cystinosis. This treatment takes the stem cells of those affected and modifies them…
In a study published recently in the Orphanet Journal of Rare Diseases, a team of researchers identified distinct variations in the neuroanatomical and neuropsychiatric phenotypes of cystinosis patients. Phenotype refers to visible,…
According to a story from Financial Buzz, the gene therapy company AVROBIO recently presented updated data on February 10th, 2020 at the 16th Annual WORLDSymposium being held in Orlando, FL. These updates…
Note: The author does hold immense compassion for children and teens and their families living with rare disease. Compassion is empathetic in sorrow, rather than wishing there is no sorrow,…
According to a recent press release from the Massachusetts-based biotechnology company Avrobio, Inc., the first patient has been dosed in the Company's phase I/II clinical study of their investigational cystinosis…
Cystinosis Cystinosis is a rare disease that causes cystine, an amino acid, to build up in the body's organs. However, there is treatment that can prevent this accumulation. Normally, patients…
According to a press release from the California Institute for Regenerative Medicine (CIRM), the Institute's governing body has approved a grant of nearly $12 million to University of California, San…
According to a story from kdrv.com, cystinosis is a very rare disease that only affects about 500 people in the US. Two of those patients are Emma Suetta and Everly…
According to a story from KUT News, Ava Shepperd and John Ben Shepperd, aged 14 and 18 respectively, always knew that they would eventually need to get kidney transplants. This…
May is Cystinosis Awareness Month! During the month (and all year long!) we strive to bring together the cystinosis patient community and their families -- and the Cystinosis Research Network's…
According to a story from Yahoo News, the Patented Medicine Prices Review Board (PMPRB), a small agency of the Canadian government that employs less than 100 people in total, is…
There was a time when most children diagnosed with a rare condition did not live until adulthood. But now, with advances in medicine, many individuals are living long, full lives…
The Problem Lysosomal storage disorders (LSDs) affect approximately one out of every 7,000 people. There are around 50 different types of LSDs. These include Fabry disease, Batten disease, Gaucher disease,…
A few months ago, Patientworthy editor Kathy Devanny asked me some important questions about the assistance I receive from Patient Access Managers as a person living with the rare disease…
According to a recent article in the Sunderland Vibe, the MRC Developmental Pathway Funding Scheme (MRC) was created to carry out the work of Professor Roz Anderson, who recently died of…
A publication at Science Daily recently announced that findings from Children's Hospital of Philadelphia suggested that cysteamine bitartrate, already used for nephropathic cystinosis (a rare kidney disease), might potentially benefit patients…
One of my better friends within the cystinosis community is Mika Covington. We met at a cystinosis event in 2016. I had read some of Mika’s entries posted in her…
Cystinosis Cystinosis is a rare disease which is caused by a buildup of cystine in the body's cells. This buildup impacts various organs including the brain, eyes, liver, kidneys, and muscles.…
For those with a complicated medical diagnosis, state-funded health insurance bodes little practicality. Patients living with rare and chronic disease must schedule visits to multiple specialty clinics and physicians, especially…
What started as a peculiar and insatiable thirst for water led to a rare disease diagnosis for a Denver family. Although they weren't expecting this challenge, they're ready for the…
This wonderful story was brought to Patient Worthy by our partners, the Cystinosis Research Network (CRN). The season of giving started off in an unconventional setting for the Moore Family. Chandler…
According to a story from Inside Philanthropy, a recent case study was conducted in order to determine the main sources of funding for rare disease research. This broad ranging study…
Another article previously published under "Featured Adult: Rebekah Palmer's Story" in The Cystinosis Advocate/ Volume 10, Issue 1/ Spring and Summer 2017: I feel an obstacle in being the adult patient…
Is there a genetic condition in your family? Are you concerned about the potential for passing this on to your children one day? Do you know if you are a…
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